A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy

Affiliations

Saeed Farajzadeh Valilou: Department of Medical Genetics and Sarem Cell Research Center (SCRC) Sarem Womens' Hospital Tehran Iran
Javad Karimzad Hagh: Department of Medical Genetics and Sarem Cell Research Center (SCRC) Sarem Womens' Hospital Tehran Iran
Mohammad Salimi Asl: Department of Medical Genetics and Sarem Cell Research Center (SCRC) Sarem Womens' Hospital Tehran Iran
Isa Abdi Rad: Departament of Medical Genetics School of Medicine Urmia University of Medical Sciences Urmia Iran
Masoud Edizadeh: Biotechnology Department School of Medicine Lorestan University of Medical Sciences Khorramabad Lorestan Iran
Arash Pooladi: Cancer and Immunology Research Center Research Institute for Health Development Kurdistan University of Medical Sciences Sanandaj Iran

Abstract

Abstract The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.